Incidental Mutation 'R9428:Trpm7'
ID 712718
Institutional Source Beutler Lab
Gene Symbol Trpm7
Ensembl Gene ENSMUSG00000027365
Gene Name transient receptor potential cation channel, subfamily M, member 7
Synonyms CHAK, 5033407O22Rik, TRP-PLIK, 4833414K03Rik, CHAK1, LTRPC7, Ltpr7, 2310022G15Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9428 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 126633485-126718150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126671140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 614 (E614G)
Ref Sequence ENSEMBL: ENSMUSP00000099513 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028843] [ENSMUST00000103224]
AlphaFold Q923J1
PDB Structure CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028843
AA Change: E614G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028843
Gene: ENSMUSG00000027365
AA Change: E614G

DomainStartEndE-ValueType
Blast:ANK 438 467 5e-6 BLAST
low complexity region 541 555 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
transmembrane domain 853 875 N/A INTRINSIC
Pfam:Ion_trans 887 1096 3e-8 PFAM
PDB:3E7K|H 1198 1249 6e-27 PDB
low complexity region 1385 1397 N/A INTRINSIC
Blast:Alpha_kinase 1398 1545 6e-64 BLAST
Alpha_kinase 1596 1813 3.77e-89 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103224
AA Change: E614G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099513
Gene: ENSMUSG00000027365
AA Change: E614G

DomainStartEndE-ValueType
Blast:ANK 438 467 5e-6 BLAST
low complexity region 541 555 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
Pfam:Ion_trans 855 1108 1.7e-9 PFAM
Pfam:TRPM_tetra 1194 1249 3.3e-29 PFAM
low complexity region 1385 1397 N/A INTRINSIC
Blast:Alpha_kinase 1398 1546 2e-64 BLAST
Alpha_kinase 1597 1814 3.77e-89 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic lehality. Mice with conditional deletion in developing thymocytes display a block in thymopoiesis. Mice homozygous for a kinase deleted allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit altered magnesium homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Agmo A G 12: 37,455,330 (GRCm39) I281M probably benign Het
Ahdc1 C T 4: 132,791,773 (GRCm39) P1005S possibly damaging Het
Akap12 T A 10: 4,303,409 (GRCm39) V178D probably damaging Het
Arc A G 15: 74,543,063 (GRCm39) S387P probably benign Het
Arhgap11a C T 2: 113,667,279 (GRCm39) V423I probably benign Het
Arhgap44 A G 11: 64,899,168 (GRCm39) S670P probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
C4bp A T 1: 130,581,094 (GRCm39) F138L probably benign Het
Carmil1 A T 13: 24,295,834 (GRCm39) C393* probably null Het
Cblif A G 19: 11,735,102 (GRCm39) T241A probably benign Het
Celsr1 A T 15: 85,815,549 (GRCm39) V1822E possibly damaging Het
Chgb C G 2: 132,635,154 (GRCm39) S365R probably damaging Het
Cnih3 T C 1: 181,180,857 (GRCm39) probably benign Het
Dcaf1 T A 9: 106,735,528 (GRCm39) D825E possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmbt1 A T 7: 130,668,208 (GRCm39) E488V unknown Het
Espnl A G 1: 91,273,595 (GRCm39) Y985C probably damaging Het
Frmpd2 T C 14: 33,272,010 (GRCm39) V1048A probably damaging Het
Fxn A T 19: 24,249,787 (GRCm39) L100Q probably damaging Het
Gapvd1 T A 2: 34,607,318 (GRCm39) D560V probably damaging Het
Gm4924 T A 10: 82,213,490 (GRCm39) H429Q unknown Het
Gpr158 T C 2: 21,787,972 (GRCm39) F538L probably benign Het
Itpr1 T A 6: 108,378,308 (GRCm39) M1278K possibly damaging Het
Ivd T A 2: 118,708,369 (GRCm39) V361E probably damaging Het
Kcnh6 T C 11: 105,899,821 (GRCm39) L30P probably damaging Het
Lipo4 C T 19: 33,495,074 (GRCm39) V35I probably benign Het
Lmo7 A G 14: 102,155,076 (GRCm39) D1200G probably damaging Het
Med1 T A 11: 98,080,049 (GRCm39) R31* probably null Het
Mill2 A T 7: 18,573,950 (GRCm39) R12* probably null Het
Mphosph8 A G 14: 56,934,114 (GRCm39) probably null Het
Mtfr2 T A 10: 20,233,039 (GRCm39) S203T possibly damaging Het
Muc5ac A C 7: 141,362,559 (GRCm39) T1957P unknown Het
Mxi1 C A 19: 53,299,213 (GRCm39) P28Q probably benign Het
Mycbpap T C 11: 94,393,995 (GRCm39) D367G probably damaging Het
Nav3 T C 10: 109,605,176 (GRCm39) T966A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Ndst2 A T 14: 20,775,470 (GRCm39) F673L possibly damaging Het
Ndst3 T A 3: 123,340,518 (GRCm39) I767F probably benign Het
Nell1 A T 7: 50,503,683 (GRCm39) D696V probably damaging Het
Nol9 A T 4: 152,124,109 (GRCm39) T100S probably benign Het
Nr4a1 T C 15: 101,168,245 (GRCm39) S94P probably damaging Het
Nrdc T C 4: 108,858,121 (GRCm39) I31T probably damaging Het
Oas2 T A 5: 120,887,576 (GRCm39) D88V probably damaging Het
Or8w1 T C 2: 87,465,774 (GRCm39) I106V probably benign Het
Pex6 A G 17: 47,022,991 (GRCm39) H189R probably benign Het
Pgap1 A G 1: 54,575,206 (GRCm39) S239P probably damaging Het
Pheta1 C T 5: 121,991,147 (GRCm39) P170S possibly damaging Het
Plec A G 15: 76,067,721 (GRCm39) probably null Het
Plekhg5 T C 4: 152,192,780 (GRCm39) V582A probably benign Het
Plekhh2 G T 17: 84,873,841 (GRCm39) E375D probably benign Het
Pramel55 G T 5: 95,949,545 (GRCm39) R97S probably damaging Het
Prp2rt A G 13: 97,235,724 (GRCm39) S8P probably benign Het
Psmd4 G A 3: 94,940,767 (GRCm39) T332I probably benign Het
Ptprc T A 1: 138,041,485 (GRCm39) T76S probably benign Het
Rab44 A T 17: 29,358,315 (GRCm39) I168L Het
Ros1 T C 10: 51,958,061 (GRCm39) T1872A probably benign Het
Scgb1b24 A T 7: 33,443,493 (GRCm39) K51* probably null Het
Scube2 A T 7: 109,428,345 (GRCm39) D509E probably benign Het
Sgo2b A T 8: 64,393,067 (GRCm39) S123R probably damaging Het
Smc3 G C 19: 53,617,150 (GRCm39) R521P possibly damaging Het
Socs4 G A 14: 47,528,034 (GRCm39) R323H probably damaging Het
Socs5 T A 17: 87,441,067 (GRCm39) D2E probably benign Het
Sra1 A G 18: 36,810,299 (GRCm39) V121A probably damaging Het
Stimate T C 14: 30,594,645 (GRCm39) S253P probably benign Het
Tanc1 T C 2: 59,601,548 (GRCm39) L143P probably damaging Het
Tcerg1l A T 7: 137,811,490 (GRCm39) F568Y probably damaging Het
Tuba4a G T 1: 75,192,686 (GRCm39) H337Q Het
Tubgcp6 G A 15: 88,985,100 (GRCm39) H1663Y probably damaging Het
Ush2a A G 1: 188,175,316 (GRCm39) Y1138C probably damaging Het
Vmn1r18 A T 6: 57,367,535 (GRCm39) N6K possibly damaging Het
Vmn1r213 G A 13: 23,195,944 (GRCm39) A176T Het
Vmn1r215 A T 13: 23,260,749 (GRCm39) H263L probably benign Het
Vmn2r51 CGGCCAATAGAAGAAACTTTTACCTTCAAGCAGTGAGAACTGGC CGGC 7: 9,833,712 (GRCm39) probably benign Het
Wdhd1 A C 14: 47,489,427 (GRCm39) L702* probably null Het
Zc3h12a T C 4: 125,020,558 (GRCm39) E95G probably benign Het
Other mutations in Trpm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Trpm7 APN 2 126,670,951 (GRCm39) missense possibly damaging 0.82
IGL01084:Trpm7 APN 2 126,687,992 (GRCm39) critical splice donor site probably null
IGL01634:Trpm7 APN 2 126,668,738 (GRCm39) missense probably damaging 1.00
IGL01678:Trpm7 APN 2 126,658,719 (GRCm39) missense probably damaging 0.99
IGL02005:Trpm7 APN 2 126,655,104 (GRCm39) missense probably damaging 0.97
IGL02064:Trpm7 APN 2 126,639,863 (GRCm39) missense probably damaging 1.00
IGL02156:Trpm7 APN 2 126,641,163 (GRCm39) unclassified probably benign
IGL02172:Trpm7 APN 2 126,637,248 (GRCm39) missense possibly damaging 0.94
IGL02334:Trpm7 APN 2 126,649,282 (GRCm39) missense probably benign
IGL02375:Trpm7 APN 2 126,667,664 (GRCm39) missense probably damaging 1.00
IGL02388:Trpm7 APN 2 126,661,811 (GRCm39) missense possibly damaging 0.80
IGL02552:Trpm7 APN 2 126,682,699 (GRCm39) missense probably damaging 1.00
IGL02684:Trpm7 APN 2 126,688,079 (GRCm39) missense probably damaging 0.99
IGL02901:Trpm7 APN 2 126,649,207 (GRCm39) critical splice donor site probably null
Accused UTSW 2 126,668,657 (GRCm39) missense probably damaging 0.99
Condemned UTSW 2 126,677,428 (GRCm39) missense probably damaging 1.00
denounced UTSW 2 126,654,941 (GRCm39) missense probably benign 0.00
deposed UTSW 2 126,639,418 (GRCm39) missense probably benign 0.01
Summac UTSW 2 126,661,883 (GRCm39) missense probably damaging 1.00
Vacated UTSW 2 126,691,842 (GRCm39) missense probably damaging 1.00
P0037:Trpm7 UTSW 2 126,658,677 (GRCm39) splice site probably benign
R0038:Trpm7 UTSW 2 126,637,388 (GRCm39) missense probably damaging 1.00
R0139:Trpm7 UTSW 2 126,654,691 (GRCm39) missense probably benign
R0165:Trpm7 UTSW 2 126,639,433 (GRCm39) missense probably damaging 0.97
R0511:Trpm7 UTSW 2 126,668,638 (GRCm39) nonsense probably null
R0543:Trpm7 UTSW 2 126,690,449 (GRCm39) missense probably damaging 1.00
R0784:Trpm7 UTSW 2 126,687,992 (GRCm39) critical splice donor site probably null
R0844:Trpm7 UTSW 2 126,677,428 (GRCm39) missense probably damaging 1.00
R0865:Trpm7 UTSW 2 126,641,159 (GRCm39) splice site probably null
R0919:Trpm7 UTSW 2 126,673,158 (GRCm39) missense probably damaging 1.00
R0972:Trpm7 UTSW 2 126,646,969 (GRCm39) missense probably benign
R1109:Trpm7 UTSW 2 126,639,713 (GRCm39) missense probably benign 0.01
R1118:Trpm7 UTSW 2 126,664,406 (GRCm39) missense possibly damaging 0.63
R1278:Trpm7 UTSW 2 126,667,374 (GRCm39) nonsense probably null
R1527:Trpm7 UTSW 2 126,672,082 (GRCm39) missense probably benign 0.18
R1542:Trpm7 UTSW 2 126,664,519 (GRCm39) nonsense probably null
R1882:Trpm7 UTSW 2 126,654,697 (GRCm39) missense probably benign 0.00
R1951:Trpm7 UTSW 2 126,673,219 (GRCm39) missense probably damaging 1.00
R2011:Trpm7 UTSW 2 126,665,917 (GRCm39) nonsense probably null
R2012:Trpm7 UTSW 2 126,665,917 (GRCm39) nonsense probably null
R2026:Trpm7 UTSW 2 126,654,658 (GRCm39) missense probably benign 0.39
R2067:Trpm7 UTSW 2 126,639,647 (GRCm39) missense probably damaging 1.00
R2926:Trpm7 UTSW 2 126,700,329 (GRCm39) splice site probably benign
R3082:Trpm7 UTSW 2 126,686,342 (GRCm39) missense possibly damaging 0.90
R3552:Trpm7 UTSW 2 126,668,630 (GRCm39) splice site probably benign
R3607:Trpm7 UTSW 2 126,638,348 (GRCm39) intron probably benign
R3739:Trpm7 UTSW 2 126,693,441 (GRCm39) missense probably damaging 1.00
R3943:Trpm7 UTSW 2 126,673,138 (GRCm39) missense possibly damaging 0.94
R4161:Trpm7 UTSW 2 126,658,751 (GRCm39) missense probably damaging 1.00
R4176:Trpm7 UTSW 2 126,671,083 (GRCm39) missense possibly damaging 0.83
R4392:Trpm7 UTSW 2 126,690,458 (GRCm39) missense probably damaging 1.00
R4392:Trpm7 UTSW 2 126,637,429 (GRCm39) splice site probably null
R4404:Trpm7 UTSW 2 126,675,635 (GRCm39) missense probably damaging 0.97
R4574:Trpm7 UTSW 2 126,639,131 (GRCm39) missense probably benign 0.01
R4714:Trpm7 UTSW 2 126,682,703 (GRCm39) nonsense probably null
R4807:Trpm7 UTSW 2 126,673,149 (GRCm39) missense probably benign 0.00
R4815:Trpm7 UTSW 2 126,700,412 (GRCm39) missense probably damaging 1.00
R4846:Trpm7 UTSW 2 126,655,105 (GRCm39) missense possibly damaging 0.63
R4972:Trpm7 UTSW 2 126,665,978 (GRCm39) missense probably damaging 1.00
R5097:Trpm7 UTSW 2 126,638,256 (GRCm39) critical splice donor site probably null
R5263:Trpm7 UTSW 2 126,663,137 (GRCm39) missense probably benign 0.34
R5361:Trpm7 UTSW 2 126,671,161 (GRCm39) missense possibly damaging 0.77
R5377:Trpm7 UTSW 2 126,684,775 (GRCm39) critical splice donor site probably null
R5574:Trpm7 UTSW 2 126,654,950 (GRCm39) missense probably benign
R5782:Trpm7 UTSW 2 126,639,634 (GRCm39) missense probably benign 0.04
R5840:Trpm7 UTSW 2 126,664,531 (GRCm39) nonsense probably null
R6044:Trpm7 UTSW 2 126,656,665 (GRCm39) missense probably damaging 1.00
R6178:Trpm7 UTSW 2 126,679,301 (GRCm39) missense probably damaging 1.00
R6196:Trpm7 UTSW 2 126,667,559 (GRCm39) missense possibly damaging 0.66
R6457:Trpm7 UTSW 2 126,649,214 (GRCm39) missense probably benign
R6530:Trpm7 UTSW 2 126,654,631 (GRCm39) missense probably damaging 1.00
R6764:Trpm7 UTSW 2 126,686,340 (GRCm39) missense possibly damaging 0.79
R6841:Trpm7 UTSW 2 126,654,941 (GRCm39) missense probably benign 0.00
R6868:Trpm7 UTSW 2 126,679,334 (GRCm39) missense probably damaging 1.00
R7250:Trpm7 UTSW 2 126,668,685 (GRCm39) missense possibly damaging 0.87
R7402:Trpm7 UTSW 2 126,641,126 (GRCm39) missense probably damaging 1.00
R7451:Trpm7 UTSW 2 126,668,657 (GRCm39) missense probably damaging 0.99
R7486:Trpm7 UTSW 2 126,673,115 (GRCm39) critical splice donor site probably null
R7509:Trpm7 UTSW 2 126,691,842 (GRCm39) missense probably damaging 1.00
R7586:Trpm7 UTSW 2 126,652,085 (GRCm39) missense probably benign
R7774:Trpm7 UTSW 2 126,655,158 (GRCm39) missense probably benign 0.09
R7793:Trpm7 UTSW 2 126,665,995 (GRCm39) nonsense probably null
R7812:Trpm7 UTSW 2 126,641,236 (GRCm39) missense probably damaging 1.00
R7900:Trpm7 UTSW 2 126,639,418 (GRCm39) missense probably benign 0.01
R7951:Trpm7 UTSW 2 126,655,188 (GRCm39) missense possibly damaging 0.94
R7965:Trpm7 UTSW 2 126,667,614 (GRCm39) missense probably damaging 0.99
R7992:Trpm7 UTSW 2 126,667,454 (GRCm39) missense probably benign
R8034:Trpm7 UTSW 2 126,688,119 (GRCm39) missense probably damaging 0.98
R8199:Trpm7 UTSW 2 126,691,918 (GRCm39) missense probably damaging 1.00
R8304:Trpm7 UTSW 2 126,639,797 (GRCm39) missense probably damaging 1.00
R8405:Trpm7 UTSW 2 126,658,755 (GRCm39) missense probably benign 0.26
R8674:Trpm7 UTSW 2 126,641,086 (GRCm39) unclassified probably benign
R8742:Trpm7 UTSW 2 126,667,469 (GRCm39) missense probably damaging 1.00
R8754:Trpm7 UTSW 2 126,664,623 (GRCm39) missense probably damaging 1.00
R8842:Trpm7 UTSW 2 126,663,131 (GRCm39) missense probably benign 0.05
R8850:Trpm7 UTSW 2 126,652,100 (GRCm39) missense probably benign 0.00
R8881:Trpm7 UTSW 2 126,661,883 (GRCm39) missense probably damaging 1.00
R8898:Trpm7 UTSW 2 126,664,661 (GRCm39) missense possibly damaging 0.92
R9339:Trpm7 UTSW 2 126,665,906 (GRCm39) missense probably benign 0.04
R9446:Trpm7 UTSW 2 126,672,185 (GRCm39) critical splice acceptor site probably null
R9568:Trpm7 UTSW 2 126,664,510 (GRCm39) missense probably benign 0.02
R9647:Trpm7 UTSW 2 126,667,562 (GRCm39) missense probably damaging 1.00
R9678:Trpm7 UTSW 2 126,686,290 (GRCm39) missense probably damaging 1.00
R9746:Trpm7 UTSW 2 126,664,578 (GRCm39) missense possibly damaging 0.47
X0026:Trpm7 UTSW 2 126,671,210 (GRCm39) missense probably benign
Z1088:Trpm7 UTSW 2 126,639,201 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATACTGCTTCAGTTCCTCTG -3'
(R):5'- TAAGATGCTGGAGGTGAGATCC -3'

Sequencing Primer
(F):5'- GAAGTATCATCTACCAGGTCACTCTG -3'
(R):5'- AGGTGAGATCCCAGCCTCTTC -3'
Posted On 2022-05-16